Canonical Allele Identifier: CA339009346
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2130301
ClinVar RCV Id: RCV003044464
MyVariant Identifiers: chr1:g.24194511T>A (hg19) chr1:g.23868021T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868021T>A , CM000663.2:g.23868021T>A GRCh38
NC_000001.10:g.24194511T>A , CM000663.1:g.24194511T>A GRCh37
NC_000001.9:g.24067098T>A NCBI36
NG_013346.1:g.5349A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.266A>T MANE Select ENSP00000363603.3:p.Tyr89Phe
ENST00000374479.3:c.266A>T ENSP00000363603.3:p.Tyr89Phe
NM_000147.4:c.266A>T NP_000138.2:p.Tyr89Phe
XM_005245821.1:c.-284A>T XP_005245878.1:n.-284A>T
XM_005245821.3:c.-284A>T XP_005245878.1:n.-284A>T
NM_000147.5:c.266A>T MANE Select NP_000138.2:p.Tyr89Phe
NR_174379.1:n.270A>T
NR_174380.1:n.270A>T
NR_174381.1:n.270A>T
NR_174382.1:n.270A>T
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